Rippon GA, Crook R, Baker M, Halvorsen E, Chin S, Hutton M, Houlden H, Hardy J, Lynch T. Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. Arch Neurol. 2003 Jun;60(6):884-8. PubMed.

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Mutations

  1. PSEN1 M139V